KEGG   Homo sapiens (human): 6505
Entry
6505              CDS       T01001                                 

Gene name
SLC1A1, DCBXA, EAAC1, EAAT3, SCZD18
Definition
(RefSeq) solute carrier family 1 member 1
  KO
K05612  solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter), member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04721  Synaptic vesicle cycle
hsa04724  Glutamatergic synapse
hsa04974  Protein digestion and absorption
Disease
H00911  Dicarboxylic aminoaciduria
H01450  Obsessive-compulsive disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    6505 (SLC1A1)
  09156 Nervous system
   04724 Glutamatergic synapse
    6505 (SLC1A1)
   04721 Synaptic vesicle cycle
    6505 (SLC1A1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6505 (SLC1A1)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC1: High-affinity glutamate and neutral amino acid transporter
   6505 (SLC1A1)
SSDB
Motif
Pfam: SDF
Other DBs
NCBI-GeneID: 6505
NCBI-ProteinID: NP_004161
OMIM: 133550
HGNC: 10939
Ensembl: ENSG00000106688
Vega: OTTHUMG00000019468
Pharos: P43005(Tchem)
UniProt: P43005
Position
9p24.2
AA seq 524 aa
MGKPARKGCEWKRFLKNNWVLLSTVAAVVLGITTGVLVREHSNLSTLEKFYFAFPGEILM
RMLKLIILPLIISSMITGVAALDSNVSGKIGLRAVVYYFCTTLIAVILGIVLVVSIKPGV
TQKVGEIARTGSTPEVSTVDAMLDLIRNMFPENLVQACFQQYKTKREEVKPPSDPEMNMT
EESFTAVMTTAISKNKTKEYKIVGMYSDGINVLGLIVFCLVFGLVIGKMGEKGQILVDFF
NALSDATMKIVQIIMCYMPLGILFLIAGKIIEVEDWEIFRKLGLYMATVLTGLAIHSIVI
LPLIYFIVVRKNPFRFAMGMAQALLTALMISSSSATLPVTFRCAEENNQVDKRITRFVLP
VGATINMDGTALYEAVAAVFIAQLNDLDLGIGQIITISITATSASIGAAGVPQAGLVTMV
IVLSAVGLPAEDVTLIIAVDWLLDRFRTMVNVLGDAFGTGIVEKLSKKELEQMDVSSEVN
IVNPFALESTILDNEDSDTKKSYVNGGFAVDKSDTISFTQTSQF
NT seq 1575 nt   +upstreamnt  +downstreamnt
atggggaaaccggcgaggaaaggatgcgagtggaagcgcttcctgaagaataactgggtg
ttgctgtccaccgtggccgcggtggtgctaggcattaccacaggagtcttggttcgagaa
cacagcaacctctcaactctagagaaattctactttgcttttcctggagaaattctaatg
cggatgctgaaactcatcattttgccattaattatatccagcatgattacaggtgttgct
gcactggattccaacgtatccggaaaaattggtctgcgcgctgtcgtgtattatttctgt
accactctcattgctgttattctaggtattgtgctggtggtgagcatcaagcctggtgtc
acccagaaagtgggtgaaattgcgaggacaggcagcacccctgaagtcagtacggtggat
gccatgttagatctcatcaggaatatgttccctgagaatcttgtccaggcctgttttcag
cagtacaaaactaagcgtgaagaagtgaagcctcccagcgatccagagatgaacatgaca
gaagagtccttcacagctgtcatgacaactgcaatttccaagaacaaaacaaaggaatac
aaaattgttggcatgtattcagatggcataaacgtcctgggcttgattgtcttttgcctt
gtctttggacttgtcattggaaaaatgggagaaaagggacaaattctggtggatttcttc
aatgctttgagtgatgcaaccatgaaaatcgttcagatcatcatgtgttatatgccacta
ggtattttgttcctgattgctgggaagatcatagaagttgaagactgggaaatattccgc
aagctgggcctttacatggccacagtcctgactgggcttgcaatccactccattgtaatt
ctcccgctgatatatttcatagtcgtacgaaagaaccctttccgatttgccatgggaatg
gcccaggctctcctgacagctctcatgatctcttccagttcagcaacactgcctgtcacc
ttccgctgtgctgaagaaaataaccaggtggacaagaggatcactcgattcgtgttaccc
gttggtgcaacaatcaacatggatgggactgcgctctatgaagcagtggcagcggtgttt
attgcacagttgaatgacctggacttgggcattgggcagatcatcaccatcagtatcacg
gccacatctgccagcatcggagctgctggcgtgccccaggctggcctggtgaccatggtg
attgtgctgagtgccgtgggcctgcccgccgaggatgtcaccctgatcattgctgtcgac
tggctcctggaccggttcaggaccatggtcaacgtccttggtgatgcttttgggacgggc
attgtggaaaagctctccaagaaggagctggagcagatggatgtttcatctgaagtcaac
attgtgaatccctttgccttggaatccacaatccttgacaacgaagactcagacaccaag
aagtcttatgtcaatggaggctttgcagtagacaagtctgacaccatctcattcacccag
acctcacagttctag

KEGG   Homo sapiens (human): 6511
Entry
6511              CDS       T01001                                 

Gene name
SLC1A6, EAAT4
Definition
(RefSeq) solute carrier family 1 member 6
  KO
K05617  solute carrier family 1 (high affinity glutamate/aspartate transporter), member 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04721  Synaptic vesicle cycle
hsa04724  Glutamatergic synapse
hsa05017  Spinocerebellar ataxia
Network
nt06440  Transcription
nt06462  Spinocerebellar ataxia
  Element
N00965  RORA-mediated transcription
N00966  Mutation-caused aberrant ATXN1 to RORA-mediated transcription
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    6511 (SLC1A6)
   04721 Synaptic vesicle cycle
    6511 (SLC1A6)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    6511 (SLC1A6)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6511 (SLC1A6)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC1: High-affinity glutamate and neutral amino acid transporter
   6511 (SLC1A6)
SSDB
Motif
Pfam: SDF
Other DBs
NCBI-GeneID: 6511
NCBI-ProteinID: NP_005062
OMIM: 600637
HGNC: 10944
Ensembl: ENSG00000105143
Vega: OTTHUMG00000183351
Pharos: P48664(Tchem)
UniProt: P48664 B7Z7Q5
Position
19p13.12
AA seq 564 aa
MSSHGNSLFLRESGQRLGRVGWLQRLQESLQQRALRTRLRLQTMTLEHVLRFLRRNAFIL
LTVSAVVIGVSLAFALRPYQLTYRQIKYFSFPGELLMRMLQMLVLPLIVSSLVTGMASLD
NKATGRMGMRAAVYYMVTTIIAVFIGILMVTIIHPGKGSKEGLHREGRIETIPTADAFMD
LIRNMFPPNLVEACFKQFKTQYSTRVVTRTMVRTENGSEPGASMPPPFSVENGTSFLENV
TRALGTLQEMLSFEETVPVPGSANGINALGLVVFSVAFGLVIGGMKHKGRVLRDFFDSLN
EAIMRLVGIIIWYAPVGILFLIAGKILEMEDMAVLGGQLGMYTLTVIVGLFLHAGIVLPL
IYFLVTHRNPFPFIGGMLQALITAMGTSSSSATLPITFRCLEEGLGVDRRITRFVLPVGA
TVNMDGTALYEALAAIFIAQVNNYELNLGQITTISITATAASVGAAGIPQAGLVTMVIVL
TSVGLPTEDITLIIAVDWFLDRLRTMTNVLGDSIGAAVIEHLSQRELELQEAELTLPSLG
KPYKSLMAQEKGASRGRGGNESAM
NT seq 1695 nt   +upstreamnt  +downstreamnt
atgagcagccatggcaacagcctgttcctgcgggagagcggccagcggctgggccgggtg
ggctggctgcagcggctgcaggaaagcctgcagcagagagcactgcgcacgcgcctgcgc
ctgcagaccatgaccctcgagcacgtgctgcgcttcctgcgccgaaacgccttcattctg
ctgacggtcagcgccgtggtcattggggtcagcctggcctttgccctgcgcccatatcag
ctcacctaccgccagatcaagtacttctcttttcctggagagcttctgatgaggatgctg
cagatgctggtgttacctctcattgtctccagcctggtcacaggtatggcatccctggac
aacaaggccacggggcggatggggatgcgggcagctgtgtactacatggtgaccaccatc
atcgcggtcttcatcggcatcctcatggtcaccatcatccatcccgggaagggctccaag
gaggggctgcaccgggagggccggatcgagaccatccccacagctgatgccttcatggac
ctgatcagaaatatgtttccaccaaaccttgtggaggcctgcttcaaacagttcaagacg
cagtacagcacgagggtggtaaccaggaccatggtgaggacagagaacgggtctgagccg
ggtgcctccatgcctcctccattctcagtggagaacggaaccagcttcctggaaaatgtc
actcgggccttgggtaccctgcaggagatgctgagctttgaggagactgtacccgtgcct
ggctccgccaatggcatcaacgccctgggcctcgtggtcttctctgtggcctttgggctg
gtcattggtggcatgaaacacaagggcagagtcctcagggacttcttcgacagcctcaat
gaggctattatgaggctggtgggcatcattatctggtatgcacctgtgggcatcctgttc
ctgattgctgggaagattctggagatggaagacatggccgtcctggggggtcagctgggc
atgtacaccctgaccgtcatcgtgggcctgttcctccatgccggcattgtccttcccctc
atctacttcctcgtcactcaccggaaccccttccccttcattgggggcatgctacaagcc
ctcatcaccgctatgggcacgtcttccagctcggcaacgctgcccatcaccttccgctgc
ctggaggagggcctgggtgtggaccgccgcatcaccaggttcgtcctgcccgtgggcgcc
acggtcaacatggatggcactgccctctacgaggccctggctgccatcttcattgctcaa
gttaacaactacgagctcaacctgggtcagatcacaaccatcagcatcacggccacagca
gccagtgttggggctgctggcatcccccaggcgggtctggtcaccatggtcattgtgctt
acgtcggtcggcttgcccacggaagacatcacgctcatcattgccgtggactggttcctt
gaccggcttcgcacaatgaccaacgtactgggggactcaattggagcggccgtcatcgag
cacttgtctcagcgggagctggagcttcaggaagctgagcttaccctccccagcctgggg
aaaccctacaagtccctcatggcacaggagaagggggcatcccggggacggggaggcaac
gagagtgctatgtga

DBGET integrated database retrieval system